Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Demographic information form
研究概览
简要总结
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism. It is a genetic disorder that is carried by an X-linked recessive gene.
LNS has 3 typical symptoms. These are increased uric acid, neurological symptoms and behavioral disorders. Dystonia is often seen among its neurological manifestations. Signs of primidal and extraprimidal system can be seen.
It is very important to create the syndrome-specific physiotherapy program. In order to achieve this, evaluations based on the International Classification of Functioning, Disability and Health (ICF) model are valuable in terms of showing the right way in the management of the disease.
详细描述
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism. It was described by Lesch and Nyhan in 1960. It is a genetic disorder that is carried by an X-linked recessive gene and is therefore predominantly seen in males.
LNS has 3 typical symptoms. These are increased uric acid, neurological symptoms and behavioral disorders. Self-harming behavior begins to appear from the age of 2. Dystonia is often seen among its neurological manifestations. Signs of primidal and extraprimidal system can be seen.
As developments in treatment methods continue in individuals with LNS, the expected life expectancy of these individuals is prolonged. However, these individuals require physiotherapy for symptoms specific to LNS.
Because of the developmental delay seen in babies with LNS, these babies may be diagnosed with cerebral palsy. It is very important to create the syndrome-specific physiotherapy program. In order to achieve this, evaluations based on the International Classification of Functioning, Disability and Health (ICF) model are valuable in terms of showing the right way in the management of the disease.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Having lesch-nyhan syndrome
排除标准
- 未提供
结局指标
主要结局
Demographic information form
时间窗: 20 munites
This form was prepared by the researchers to obtain the demographic data of the case in the study.
Modified Ashworth Scale
时间窗: 10 minutes
Modified Ashworth Scale (MAS) is used to assess spasticity. Modified Ashworth Scale (MAS) have been utilized in the following populations: stroke, spinal cord injury, cerebral palsy, traumatic brain injury, pediatric hypertonia and central nervous system lesions.
Gross Motor Function Measure (GMFM)
时间窗: 45 minutes
The Gross Motor Function Measure (GMFM) is an observational clinical tool designed to evaluate change in gross motor function in children with cerebral palsy, Down Syndrome and acquired brain damage.
The Pediatric Quality of Life Inventory (PedsQL)
时间窗: 20 minutes
The Pediatric Quality of Life Inventory (PedsQL) is a valid, practical, brief, standardized, generic, and self-reporting assessment tool to measure health-related quality of life HRQOL for pediatrics and adolescents, it can be carried by patients himself and their parents.The PedsQL 4.0 Generic Core Scales instrument is the last version of PedsQL contain 23-items, including formats for typically developing children and adolescents 2 to 18 years old.
Gross Motor Function Classification System (GMFCS)
时间窗: 10 munites
Gross Motor Function Classification System developed in 1997\[1\] to classify and describe the abilities of children and youth with cerebral palsy. Generally, the higher the level the poorer the functional ability of the child.
Functional Independence Measure (WeeFIM)
时间窗: 10 minutes
The WeeFIM II® System, a pediatric version of the Functional Independence Measure™ (FIM) System, documents and tracks functional performance in children and adolescents with acquired or congenital disabilities by measuring a child's need for assistance, in addition to the severity of disability.
次要结局
未报告次要终点
研究者
tuba kolaylı
Lecturer
Uskudar University